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Publicação
Familial hypercholesterolemiaassociated variants in ClinVar
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| 1.39 MB | Adobe PDF |
Orientador(es)
Resumo(s)
Familial Hypercholesterolemia (FH): Lipid metabolism autosomal dominant condition; Patients present elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since birth - elevated cardiovascular risk if untreated; High heterozygote prevalence (1/250-500); Homozygous rare (1/300 000-1 000 000); Caused by pathogenic variants in LDLR (>90%), APOB (5-10%) and PCSK9 (1-3%) genes.
Descrição
Palavras-chave
Familial Hypercholesterolemia Doenças Cardio e Cérebro-vasculares